多発性嚢胞腎 - MGenReviews

多発性嚢胞腎

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_138694.4(PKHD1):c.9113del (p.Leu3037_Leu3038insTer)	PKHD1	Likely pathogenic	6	51613301	51613301	TA	T	criteria provided, single submitter	-
single nucleotide variant	NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)	PKHD1	Likely pathogenic	6	51613118	51613118	G	T	criteria provided, single submitter	ClinGen:CA3851414
single nucleotide variant	NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51613095	51613095	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274366
single nucleotide variant	NM_138694.4(PKHD1):c.9370C>T (p.His3124Tyr)	PKHD1	Pathogenic/Likely pathogenic	6	51613044	51613044	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_138694.4(PKHD1):c.9470_9473dup (p.Met3158fs)	PKHD1	Likely pathogenic	6	51612940	51612941	C	CATGG	criteria provided, single submitter	ClinGen:CA16041033
Duplication	NM_138694.4(PKHD1):c.9530_9531dup (p.Gly3178fs)	PKHD1	Likely pathogenic	6	51612882	51612883	C	CAA	criteria provided, single submitter	-
Deletion	NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)	PKHD1	Pathogenic/Likely pathogenic	6	51612855	51612855	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA276016
single nucleotide variant	NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)	PKHD1	Pathogenic/Likely pathogenic	6	51612795	51612795	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_138694.4(PKHD1):c.9646C>T (p.Gln3216Ter)	PKHD1	Pathogenic	6	51612768	51612768	G	A	criteria provided, single submitter	ClinGen:CA3851359
single nucleotide variant	NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)	PKHD1	Pathogenic/Likely pathogenic	6	51612731	51612731	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041032